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This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms

缺氧誘導(dǎo)因子1Alpha不僅對于機(jī)體在缺氧條件下維持正常的生理功能具有特別重要的意義,并在腫瘤的生長以及神經(jīng)細(xì)胞凋亡等病理過程中起重要作用. HIF1 alpha能調(diào)節(jié)許多下游基因的表達(dá)水平. 哺乳動物細(xì)胞在低氧壓力條件下出現(xiàn)HIF。HIF是一種轉(zhuǎn)錄因子，對細(xì)胞的缺氧起穩(wěn)定作用。

SCIN (Scinderin) is a Ca(2+) dependent actin filament severing protein that is presumed to have a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane. In vitro SCIN also has barbed end capping and nucleating activities in the presence of Ca(2+).

Spermine synthase catalyzes the production of spermine from spermidine. Spermine, a polyamine ubiquitously present in most organisms, is essential for normal cell growth and differentiation. Because absence of spermine increases sensitivity of cells to anti-tumor agents, spermine synthase (and other polyamine biosynthesis) is an attractive target for anti-neoplastic therapy.

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TC